Submissions for variant NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)

gnomAD frequency: 0.00009  dbSNP: rs147962513

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000437328	SCV000510591	benign	not provided	2016-12-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000437328	SCV003251711	benign	not provided	2023-08-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000437328	SCV005231807	benign	not provided		criteria provided, single submitter	not provided
Department of Immunology, Genetics and Pathology, Uppsala University	RCV000128478	SCV000114945	pathogenic	Ectodermal dysplasia 4, hair/nail type		no assertion criteria provided	not provided	Converted during submission to Pathogenic.
OMIM	RCV000128640	SCV000172275	pathogenic	Ectodermal dysplasia 7, hair/nail type	2014-01-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003925086	SCV004746386	likely benign	KRT74-related disorder	2020-02-24	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).