ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT

dbSNP: rs1555789541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265618 SCV000433817 likely benign Pigmentary pallidal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000265618 SCV001731637 benign Pigmentary pallidal degeneration 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675593 SCV001783962 likely benign not provided 2018-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675593 SCV000801285 benign not provided 2017-06-08 no assertion criteria provided clinical testing

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