ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)

gnomAD frequency: 0.00191  dbSNP: rs112176097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704965 SCV000238908 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26334177)
Invitae RCV000634883 SCV000756244 benign Holocarboxylase synthetase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000634883 SCV002083744 benign Holocarboxylase synthetase deficiency 2019-12-13 no assertion criteria provided clinical testing

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