Total 3 pathogenic variants reported for Solitary median maxillary central incisor 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000193.4(SHH):c.331A>T (p.Ile111Phe) SNV
Germline
Chr7:155806527 Pathogenic Solitary median maxillary central incisor syndrome No Assertion Criteria Provided
CA119987 rs_104894049

1 SubmittersRCV000009440

NM_000193.4(SHH):c.995T>C (p.Val332Ala) SNV
Germline
Chr7:155803294 Pathogenic Solitary median maxillary central incisor syndrome No Assertion Criteria Provided
CA119988 rs_104894052

1 SubmittersRCV000009444

NM_000193.4(SHH):c.383G>A (p.Trp128Ter) SNV
Germline
Chr7:155806475 Pathogenic Holoprosencephaly 3
Solitary median maxillary central incisor syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA119989 rs_104894053

2 SubmittersRCV000009445RCV000009446RCV000263828