ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.570A>G (p.Ser190=)

gnomAD frequency: 0.00002  dbSNP: rs758132842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729923 SCV000857625 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Invitae RCV001079059 SCV001045391 likely benign Peroxisome biogenesis disorder 3A (Zellweger) 2024-02-01 criteria provided, single submitter clinical testing

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