ClinVar Miner

Submissions for variant NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)

gnomAD frequency: 0.00001  dbSNP: rs1131692170
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000494893 SCV000583525 pathogenic Perrault syndrome 6 2017-07-10 no assertion criteria provided literature only
GeneReviews RCV002527117 SCV003525969 not provided Perrault syndrome no assertion provided literature only

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