ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)

gnomAD frequency: 0.00001  dbSNP: rs748590759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790521 SCV000929852 uncertain significance CHARGE syndrome criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000790521 SCV001216508 benign CHARGE syndrome 2023-04-14 criteria provided, single submitter clinical testing

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