ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)

gnomAD frequency: 0.00001  dbSNP: rs148814769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001277485 SCV001679214 likely benign Holocarboxylase synthetase deficiency 2024-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277485 SCV001464440 uncertain significance Holocarboxylase synthetase deficiency 2020-09-04 no assertion criteria provided clinical testing

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