ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1525+12C>T

gnomAD frequency: 0.00011  dbSNP: rs372644357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001401351 SCV001603173 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504668 SCV002808991 likely benign Posterior column ataxia-retinitis pigmentosa syndrome 2022-04-28 criteria provided, single submitter clinical testing

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