ClinVar Miner

Submissions for variant NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr)

gnomAD frequency: 0.00140  dbSNP: rs148852381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333441 SCV001526013 uncertain significance Perrault syndrome 6 2018-05-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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