ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.108C>T (p.Leu36=)

dbSNP: rs138547875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000979480 SCV001127424 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271883 SCV001453356 likely benign Autosomal recessive nonsyndromic hearing loss 1A 2020-09-16 no assertion criteria provided clinical testing

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