ClinVar Miner

Submissions for variant NM_001164405.2(BHLHA9):c.211A>G (p.Asn71Asp)

dbSNP: rs672601337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics, Philipps Universitaet Marburg RCV000149486 SCV000189863 pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction 2014-10-16 no assertion criteria provided research
OMIM RCV000149486 SCV000196566 pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction 2014-12-04 no assertion criteria provided literature only

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