ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)

dbSNP: rs1804995461
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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 RCV003497491 SCV004368979 likely benign CHARGE syndrome 2023-09-05 criteria provided, single submitter clinical testing

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