ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.197C>T (p.Ala66Val)

dbSNP: rs774854340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279423 SCV001466518 uncertain significance Rhizomelic chondrodysplasia punctata 2020-09-17 no assertion criteria provided clinical testing

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