ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.991_1006+7del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005033577 SCV005672917 likely pathogenic Tumor predisposition syndrome 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cerebroretinal microangiopathy with calcifications and cysts 3 2024-02-09 criteria provided, single submitter clinical testing

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