ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.748-16C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513186 SCV001720753 benign Peroxisome biogenesis disorder 9B 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001595080 SCV001828009 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing

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