ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)

dbSNP: rs1554995522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666944 SCV000791321 likely pathogenic Autosomal recessive osteopetrosis 1 2017-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666944 SCV004205822 likely pathogenic Autosomal recessive osteopetrosis 1 2022-02-02 criteria provided, single submitter clinical testing

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