ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1047-4G>T

gnomAD frequency: 0.00002  dbSNP: rs748779475
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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) RCV000596716 SCV000705211 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079046 SCV001074370 likely benign Peroxisome biogenesis disorder 2024-09-30 criteria provided, single submitter clinical testing

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