ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)

gnomAD frequency: 0.00003  dbSNP: rs367615733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177570 SCV000229459 uncertain significance not provided 2015-01-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177570 SCV000883609 benign not provided 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000177570 SCV001983882 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054096 SCV002383409 likely benign CHARGE syndrome 2023-08-25 criteria provided, single submitter clinical testing

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