ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	RCV001250804	SCV001426287	pathogenic	Usher syndrome, type 2A	2020-06-04	criteria provided, single submitter	clinical testing

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