ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.738-20A>G

gnomAD frequency: 0.00003  dbSNP: rs777702565
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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 RCV002040288 SCV002305899 likely benign Lipoic acid synthetase deficiency 2022-11-01 criteria provided, single submitter clinical testing

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