ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.-124C>T

dbSNP: rs1242535815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002073409 SCV002497300 likely pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing TERT: PS2, PS3:Moderate
Baylor Genetics RCV003470881 SCV004208111 likely pathogenic Dyskeratosis congenita, autosomal dominant 2 2024-03-28 criteria provided, single submitter clinical testing
Division of Medical Oncology, Washington University at Saint Louis RCV001728078 SCV001976515 pathogenic Melanoma, cutaneous malignant, susceptibility to, 1 2021-01-30 no assertion criteria provided clinical testing
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine RCV002223145 SCV002500986 uncertain significance not specified no assertion criteria provided literature only
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332346 SCV004040468 pathogenic Malignant tumor of urinary bladder no assertion criteria provided research

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