ClinVar Miner

Submissions for variant NM_153638.4(PANK2):c.12C>T (p.Leu4=)

gnomAD frequency: 0.00014  dbSNP: rs774784800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000278980 SCV000340345 uncertain significance not provided 2016-03-05 criteria provided, single submitter clinical testing
Invitae RCV001454628 SCV001658361 likely benign Pigmentary pallidal degeneration 2018-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000278980 SCV004149831 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PANK2: BP4, BP7

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