Submissions for variant NM_001378183.1(PIEZO2):c.7953-9del

dbSNP: rs5823112

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001669756	SCV001890203	benign	not provided	2019-09-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788733	SCV002029739	benign	Marden-Walker syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788732	SCV002029740	benign	Gordon syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788731	SCV002029741	benign	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788734	SCV002029742	benign	Arthrogryposis, distal, with impaired proprioception and touch	2021-09-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001699593	SCV002067264	benign	not specified	2017-09-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001669756	SCV002439276	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699593	SCV001925857	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699593	SCV001931642	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699593	SCV001967612	benign	not specified		no assertion criteria provided	clinical testing