ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5988A>G (p.Gln1996=)

dbSNP: rs2150808862
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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 RCV002079361 SCV002423965 likely benign CHARGE syndrome 2021-01-21 criteria provided, single submitter clinical testing

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