ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)

gnomAD frequency: 0.00026  dbSNP: rs116001129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668036 SCV000792579 uncertain significance Autosomal recessive osteopetrosis 1 2017-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668036 SCV002789098 uncertain significance Autosomal recessive osteopetrosis 1 2022-04-29 criteria provided, single submitter clinical testing
Invitae RCV002530734 SCV003252469 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing

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