ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)

gnomAD frequency: 0.00044  dbSNP: rs373886730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455046 SCV001658788 likely benign 3-methylglutaconic aciduria type 5 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001587420 SCV001824518 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing

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