ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.234A>G (p.Pro78=)

gnomAD frequency: 0.00002  dbSNP: rs766730917
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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 RCV001475239 SCV001679429 likely benign Lipoic acid synthetase deficiency 2021-02-20 criteria provided, single submitter clinical testing

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