ClinVar Miner

Submissions for variant NM_153638.3(PANK2):c.1133A>G (p.Asp378Gly) (rs562740927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490498 SCV000267434 uncertain significance Pigmentary pallidal degeneration 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000892134 SCV001035994 likely benign not provided 2018-05-26 criteria provided, single submitter clinical testing
Invitae RCV000490498 SCV001677398 likely benign Pigmentary pallidal degeneration 2018-05-23 criteria provided, single submitter clinical testing

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