ClinVar Miner

Submissions for variant NM_006424.3(SLC34A2):c.1242G>C (p.Leu414Phe)

gnomAD frequency: 0.00433  dbSNP: rs76404281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971876 SCV001119552 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392602 SCV006057493 likely benign PULMONARY ALVEOLAR MICROLITHIASIS 2022-01-25 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003962886 SCV004782636 likely benign SLC34A2-related disorder 2019-02-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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