ClinVar Miner

Submissions for variant NM_001025356.3(ANO6):c.2660C>T (p.Thr887Met)

gnomAD frequency: 0.00002  dbSNP: rs762122053
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003388230 SCV004099302 uncertain significance SCOTT SYNDROME 2023-10-30 no assertion criteria provided clinical testing

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