ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.432C>T (p.Asn144=)

gnomAD frequency: 0.00001  dbSNP: rs372801574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504601 SCV001709486 likely benign Congenital myasthenic syndrome 15 2020-05-20 criteria provided, single submitter clinical testing

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