Submissions for variant NM_001386393.1(PANK2):c.189C>G (p.Pro63=)

gnomAD frequency: 0.00808  dbSNP: rs71647829

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000335556	SCV000433813	likely benign	Pigmentary pallidal degeneration	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000335556	SCV001020980	benign	Pigmentary pallidal degeneration	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000676174	SCV001793400	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676174	SCV005207267	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676174	SCV000801926	benign	not provided	2016-03-16	no assertion criteria provided	clinical testing