ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)

dbSNP: rs767700692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001277482 SCV001786796 uncertain significance Holocarboxylase synthetase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001277482 SCV002157555 likely benign Holocarboxylase synthetase deficiency 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277482 SCV001464437 uncertain significance Holocarboxylase synthetase deficiency 2020-08-14 no assertion criteria provided clinical testing

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