ClinVar Miner

Submissions for variant NM_001382273.1(TNK2):c.1807T>A (p.Ser603Thr)

gnomAD frequency: 0.00083  dbSNP: rs199694736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004129915 SCV003596923 uncertain significance not specified 2022-08-03 criteria provided, single submitter clinical testing The c.1996T>A (p.S666T) alteration is located in exon 13 (coding exon 13) of the TNK2 gene. This alteration results from a T to A substitution at nucleotide position 1996, causing the serine (S) at amino acid position 666 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003689027 SCV004450264 likely benign not provided 2024-09-24 criteria provided, single submitter clinical testing

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