ClinVar Miner

Submissions for variant NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)

dbSNP: rs369906914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288161 SCV001475094 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288161 SCV002134662 likely benign not provided 2024-06-21 criteria provided, single submitter clinical testing

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