ClinVar Miner

Submissions for variant NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn)

dbSNP: rs1569491884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000721928 SCV000853075 pathogenic X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 2018-11-15 no assertion criteria provided literature only

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