ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.1107C>T (p.Gly369=)

gnomAD frequency: 0.00007  dbSNP: rs781098256
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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) RCV000597363 SCV000703024 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084658 SCV001070100 benign Peroxisome biogenesis disorder, complementation group K 2025-02-04 criteria provided, single submitter clinical testing

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