ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7428T>C (p.Asp2476=)

dbSNP: rs886038636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254184 SCV000312998 likely benign not specified criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706733 SCV005225794 likely benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV005055804 SCV005706925 likely benign CHARGE syndrome 2024-12-04 criteria provided, single submitter clinical testing

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