ClinVar Miner

Submissions for variant NM_015073.3(SIPA1L3):c.3731C>T (p.Pro1244Leu)

gnomAD frequency: 0.01347  dbSNP: rs61729129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774971 SCV002004306 likely benign not provided 2024-08-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001774971 SCV002356860 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001774971 SCV005207084 likely benign not provided criteria provided, single submitter not provided

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