Submissions for variant NM_001136191.3(KANK2):c.10G>A (p.Val4Ile)

gnomAD frequency: 0.00321  dbSNP: rs139512726

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954515	SCV001101151	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000954515	SCV002008109	likely benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002489322	SCV002797935	likely benign	Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16	2021-09-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000954515	SCV005209409	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000954515	SCV001741787	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000954515	SCV001931441	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003926007	SCV004741788	likely benign	KANK2-related disorder	2019-09-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).