ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)

gnomAD frequency: 0.00002  dbSNP: rs760265551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000935656 SCV001081408 likely benign Holocarboxylase synthetase deficiency 2021-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000935656 SCV001455957 uncertain significance Holocarboxylase synthetase deficiency 2020-01-24 no assertion criteria provided clinical testing

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