ClinVar Miner

Submissions for variant NM_003966.3(SEMA5A):c.961G>A (p.Val321Ile)

gnomAD frequency: 0.00128  dbSNP: rs146817742
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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 RCV000923184 SCV001068649 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933119 SCV004751137 benign SEMA5A-related disorder 2019-04-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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