ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.583C>T (p.Leu195=)

dbSNP: rs2142971297
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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 RCV001453199 SCV001656883 likely benign Dyskeratosis congenita, autosomal dominant 6 2022-11-08 criteria provided, single submitter clinical testing

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