ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)

gnomAD frequency: 0.00003  dbSNP: rs373132598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732330 SCV000860274 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732330 SCV004683517 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing

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