ClinVar Miner

Submissions for variant NM_006280.3(SSR4):c.358_359del (p.Arg120fs)

dbSNP: rs794729223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000412666 SCV000236575 likely pathogenic SSR4-congenital disorder of glycosylation 2013-12-12 no assertion criteria provided clinical testing
OMIM RCV000412666 SCV000490216 pathogenic SSR4-congenital disorder of glycosylation 2016-11-28 no assertion criteria provided literature only

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