ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4413A>G (p.Ala1471=)

dbSNP: rs746168554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451462 SCV001655090 likely benign CHARGE syndrome 2020-07-31 criteria provided, single submitter clinical testing

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