ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.746A>T (p.Asp249Val) (rs104894552)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002733 SCV000485367 likely pathogenic Spongy degeneration of central nervous system 2015-11-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000002733 SCV001163417 pathogenic Spongy degeneration of central nervous system criteria provided, single submitter clinical testing
OMIM RCV000002733 SCV000022891 pathogenic Spongy degeneration of central nervous system 2002-11-01 no assertion criteria provided literature only

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