ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)

dbSNP: rs1553163909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664654 SCV000788654 uncertain significance Muscle eye brain disease 2017-10-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133486 SCV003811726 uncertain significance not provided 2020-12-14 criteria provided, single submitter clinical testing

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