ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.302+68C>T

gnomAD frequency: 0.00006  dbSNP: rs761188244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074350 SCV001239925 uncertain significance Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376346 SCV001573462 uncertain significance Severe early-childhood-onset retinal dystrophy 2021-04-08 criteria provided, single submitter research The ABCA4 c.302+68C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP1, BP4. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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