ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)

gnomAD frequency: 0.00005  dbSNP: rs375809125
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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 RCV001476135 SCV001680340 likely benign Holocarboxylase synthetase deficiency 2023-11-13 criteria provided, single submitter clinical testing

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