ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) (rs36111204)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082208 SCV000114157 uncertain significance not provided 2013-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764952 SCV000896125 uncertain significance ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000082208 SCV001142985 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing
Stefan Somlo Laboratory,Yale School of Medicine RCV000844763 SCV000930618 benign Polycystic liver disease 2019-05-21 no assertion criteria provided research Variant able to rescue ALG9 knockout effect on Polycystin-1 maturation in vitro

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