ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)

dbSNP: rs762221640
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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 RCV001401670 SCV001603499 likely benign Holocarboxylase synthetase deficiency 2023-12-21 criteria provided, single submitter clinical testing

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