A total 6 pathogenic variants reported in gene leucine rich repeat and coiled-coil centrosomal protein 1 (LRRCC1)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_033402.5(LRRCC1):c.105-1G>C	SNV Germline	Chr8:85109594	Pathogenic	Joubert syndrome and related disorders Condition: not provided	Criteria Provided Single Submitter	CA10588965	rs_886039794	1 SubmittersRCV000256435 RCV003989515
NM_033402.5(LRRCC1):c.2713C>T (p.Arg905Trp)	SNV Germline	Chr8:85138348	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4794995	rs_74339310	2 SubmittersRCV000904572 RCV006287295
NM_033402.5(LRRCC1):c.2841G>A (p.Lys947=)	SNV Germline	Chr8:85141382	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4795026	rs_201637203	2 SubmittersRCV004336420 RCV005104051
NM_033402.5(LRRCC1):c.184G>T (p.Asp62Tyr)	SNV Germline	Chr8:85109674	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4794315	rs_191037362	2 SubmittersRCV003550502 RCV006292393
NM_033402.5(LRRCC1):c.1721C>T (p.Ala574Val)	SNV Germline	Chr8:85130013	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4794737	rs_765839225	2 SubmittersRCV004407879 RCV006483968
NM_033402.5(LRRCC1):c.520G>A (p.Asp174Asn)	SNV Germline	Chr8:85113075	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005137007 RCV005657486