ClinVar Miner

Submissions for variant NM_007059.4(KPTN):c.504G>A (p.Pro168=)

gnomAD frequency: 0.02243  dbSNP: rs61743291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547419 SCV000654886 benign Macrocephaly-developmental delay syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001613368 SCV001841027 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613368 SCV005311040 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915625 SCV004736075 benign KPTN-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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