ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1530C>T (p.Asn510=) (rs114463490)

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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 RCV000285515 SCV000342051 uncertain significance not provided 2016-06-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387523 SCV000428435 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293023 SCV000428436 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542769 SCV000641724 benign Lethal multiple pterygium syndrome 2017-11-13 criteria provided, single submitter clinical testing

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