ClinVar Miner

Submissions for variant NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser)

dbSNP: rs1012843795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Development, Murdoch Childrens Research Institute RCV001201406 SCV001244312 uncertain significance Sensorineural hearing loss disorder; Myopathy 2020-01-14 no assertion criteria provided research

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