ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=)

gnomAD frequency: 0.00018  dbSNP: rs369565150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000054685 SCV001059321 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054685 SCV000077375 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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