ClinVar Miner

Submissions for variant NM_014053.3(FLVCR1):c.-181A>G

gnomAD frequency: 0.00002  dbSNP: rs886045921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286957 SCV000353954 uncertain significance Posterior column ataxia-retinitis pigmentosa syndrome 2016-06-14 criteria provided, single submitter clinical testing

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