ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.703-3del

dbSNP: rs1584765789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127235 SCV002403235 benign Tumor predisposition syndrome 3 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382844 SCV004091451 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-23 criteria provided, single submitter clinical testing The c.703-3delT intronic variant is located 3 nucleotides before coding exon 6 of the POT1 gene. This variant results from a deletion of one nucleotide at position c.703-3. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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