ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.426C>T (p.Cys142=)

gnomAD frequency: 0.00019  dbSNP: rs371685429
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394214 SCV001595896 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001394214 SCV002062836 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346539 SCV004050522 likely benign Cone-rod dystrophy 10 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346538 SCV004050523 likely benign Retinitis pigmentosa 35 2023-04-11 criteria provided, single submitter clinical testing

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