ClinVar Miner

Submissions for variant NM_015073.3(SIPA1L3):c.2433C>T (p.Asp811=)

gnomAD frequency: 0.00128  dbSNP: rs112137003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769633 SCV002004516 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001769633 SCV002486211 benign not provided 2022-08-16 criteria provided, single submitter clinical testing

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