ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) (rs185341934)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518650 SCV000612496 benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431177 SCV000511349 likely benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401336 SCV000372877 likely benign Congenital generalized lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301053 SCV000372878 likely benign Neurologic Disorders/Seipinopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462510 SCV000562700 benign Charcot-Marie-Tooth disease, type 2 2017-11-26 criteria provided, single submitter clinical testing

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