ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8752C>T (p.Leu2918=)

dbSNP: rs1465616826
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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 RCV001415196 SCV001617346 likely benign CHARGE syndrome 2022-03-03 criteria provided, single submitter clinical testing

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