ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1196G>A (p.Arg399His)

gnomAD frequency: 0.00001  dbSNP: rs375272767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001280924 SCV001451918 pathogenic Congenital myasthenic syndrome 5 2018-12-14 no assertion criteria provided clinical testing

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